Canonical Allele Identifier: CA499234300

Gene: NF1

Linked Data

• dbSNP Id: rs878853911
• MyVariant Identifiers: chr17:g.29665124G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338106G>C , CM000679.2:g.31338106G>C	GRCh38
NC_000017.10:g.29665124G>C , CM000679.1:g.29665124G>C	GRCh37
NC_000017.9:g.26689250G>C	NCBI36
NG_009018.1:g.248130G>C , LRG_214:g.248130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6768G>C	ENSP00000512431.1:p.Gly2256=
ENST00000684826.1:c.1350G>C	ENSP00000509994.1:p.Gly450=
ENST00000684998.1:n.2044G>C
ENST00000687027.1:c.942G>C	ENSP00000508715.1:p.Gly314=
ENST00000687863.1:n.3431G>C
ENST00000691014.1:c.6816G>C	ENSP00000510595.1:p.Gly2272=
ENST00000693617.1:c.1350G>C	ENSP00000510031.1:p.Gly450=
ENST00000358273.9:c.6786G>C MANE Select	ENSP00000351015.4:p.Gly2262=
ENST00000356175.7:c.6723G>C	ENSP00000348498.3:p.Gly2241=
ENST00000358273.8:c.6786G>C	ENSP00000351015.4:p.Gly2262=
ENST00000456735.6:c.5721G>C	ENSP00000389907.2:p.Gly1907=
ENST00000471572.6:c.169G>C
ENST00000579081.5:c.6922G>C	ENSP00000462408.1:n.6922G>C
ENST00000581790.5:c.64+226G>C
ENST00000584328.1:n.200G>C
NM_000267.3:c.6723G>C , LRG_214t1:c.6723G>C	NP_000258.1:p.Gly2241=
NM_001042492.2:c.6786G>C , LRG_214t2:c.6786G>C	NP_001035957.1:p.Gly2262=
XM_005257983.1:c.6786G>C	XP_005258040.1:p.Gly2262=
XM_005257984.1:c.6723G>C	XP_005258041.1:p.Gly2241=
XM_006721922.1:c.6816G>C	XP_006721985.1:p.Gly2272=
XM_006721923.2:c.6777G>C	XP_006721986.1:p.Gly2259=
XM_006721924.1:c.6816G>C	XP_006721987.1:p.Gly2272=
XM_006721925.1:c.6753G>C	XP_006721988.1:p.Gly2251=
XM_006721926.2:c.6816G>C	XP_006721989.1:p.Gly2272=
XM_006721927.1:c.6816G>C	XP_006721990.1:p.Gly2272=
XM_011524852.1:c.6813G>C	XP_011523154.1:p.Gly2271=
XM_011524853.1:c.6777G>C	XP_011523155.1:p.Gly2259=
XM_011524854.1:c.6777G>C	XP_011523156.1:p.Gly2259=
XM_011524855.1:c.6777G>C	XP_011523157.1:p.Gly2259=
XM_011524856.1:c.6777G>C	XP_011523158.1:p.Gly2259=
XM_011524857.1:c.6816G>C	XP_011523159.1:p.Gly2272=
NM_001042492.3:c.6786G>C MANE Select	NP_001035957.1:p.Gly2262=